Canonical Allele Identifier: CA384772075
Gene: AQP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951017A>T , CM000674.2:g.49951017A>T GRCh38
NC_000012.11:g.50344800A>T , CM000674.1:g.50344800A>T GRCh37
NC_000012.10:g.48631067A>T NCBI36
NG_008913.1:g.5277A>T , LRG_717:g.5277A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.187A>T MANE Select ENSP00000199280.3:p.Ser63Cys
ENST00000199280.3:c.187A>T ENSP00000199280.3:p.Ser63Cys
ENST00000550862.1:c.187A>T ENSP00000450022.1:p.Ser63Cys
ENST00000551526.5:c.187A>T ENSP00000447148.1:p.Ser63Cys
NM_000486.5:c.187A>T , LRG_717t1:c.187A>T NP_000477.1:p.Ser63Cys
NM_000486.6:c.187A>T MANE Select NP_000477.1:p.Ser63Cys